Linked Data
dbSNP Id:
rs11777747
gnomAD v2:
8-142466821-C-T
gnomAD v3:
8-141456721-C-T
gnomAD v4:
8-141456721-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.141456721C>T , CM000670.2:g.141456721C>T | GRCh38 |
| NC_000008.10:g.142466821C>T , CM000670.1:g.142466821C>T | GRCh37 |
| NC_000008.9:g.142536003C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000430863.5:c.2478-6972G>A | ENSP00000431031.1:n.2478-6972G>A | |
| ENST00000521053.5:c.*2021-6972G>A | ENSP00000429433.1:n.*2021-6972G>A | |
| ENST00000523857.5:c.*2289-6972G>A | ENSP00000427945.1:n.*2289-6972G>A | |
| ENST00000621837.1:c.2478-6972G>A | ENSP00000481783.1:n.2478-6972G>A | |
| NR_102363.2:n.2219-6972G>A | ||
| NR_102364.2:n.2490-6972G>A | ||
| XR_928722.1:n.516+1978C>T | ||
| XR_928722.2:n.673+1978C>T | ||
| NR_160399.1:n.2558-6972G>A | ||
| NR_102363.3:n.2218-6972G>A | ||
| NR_102364.3:n.2489-6972G>A |